LOCUS CXB5_HUMAN 273 aa linear PRI 27-NOV-2024
DEFINITION RecName: Full=Gap junction beta-5 protein; AltName:
Full=Connexin-31.1; Short=Cx31.1.
ACCESSION O95377
VERSION O95377.2
DBSOURCE UniProtKB: locus CXB5_HUMAN, accession O95377;
class: standard.
extra accessions:Q9UPA3
created: Jul 15, 1999.
sequence updated: Dec 1, 2000.
annotation updated: Nov 27, 2024.
xrefs: AF099731.1, AAC95472.1, AF052693.2, AAD18005.1, AL121988.10,
BC004379.1, AAH04379.1, NP_005259.1, XP_005270808.1
xrefs (non-sequence databases): CCDS:CCDS382.1, AlphaFoldDB:O95377,
SMR:O95377, BioGRID:108974, IntAct:O95377, MINT:O95377,
STRING:9606.ENSP00000340811, iPTMnet:O95377,
PhosphoSitePlus:O95377, BioMuta:GJB5, MassIVE:O95377,
PaxDb:9606-ENSP00000340811, PeptideAtlas:O95377,
ProteomicsDB:50830, Antibodypedia:31495, DNASU:2709,
Ensembl:ENST00000338513.1, Ensembl:ENSP00000340811.1,
Ensembl:ENSG00000189280.3, GeneID:2709, KEGG:hsa:2709,
MANE-Select:ENST00000338513.1, UCSC:uc001bxu.4, AGR:HGNC:4287,
CTD:2709, DisGeNET:2709, GeneCards:GJB5, HGNC:4287,
HPA:ENSG00000189280, MIM 604493, neXtProt:NX_O95377,
OpenTargets:ENSG00000189280, PharmGKB:PA28698,
VEuPathDB:HostDB:ENSG00000189280, eggNOG:ENOG502R3YE,
GeneTree:ENSGT01030000234513, HOGENOM:CLU_037388_4_1_1,
InParanoid:O95377, OMA:HSFYPKY, OrthoDB:5301774at2759,
PhylomeDB:O95377, TreeFam:TF329606, PathwayCommons:O95377,
Reactome:R-HSA-190861, SignaLink:O95377, BioGRID-ORCS:2709,
GeneWiki:GJB5, GenomeRNAi:2709, Pharos:O95377, PRO:PR:O95377,
Proteomes:UP000005640, RNAct:O95377, Bgee:ENSG00000189280,
ExpressionAtlas:O95377, GO:0005922, GO:0005243, GO:0007267,
GO:0008544, GO:1905867, GO:0060713, GO:0060708, GO:0060707,
FunFam:1.20.1440.80:FF:000001, Gene3D:1.20.1440.80,
InterPro:IPR000500, InterPro:IPR002271, InterPro:IPR019570,
InterPro:IPR017990, InterPro:IPR013092, InterPro:IPR038359,
PANTHER:PTHR11984, PANTHER:PTHR11984:SF29, Pfam:PF00029,
PRINTS:PR00206, PRINTS:PR01141, SMART:SM00037, SMART:SM01089,
PROSITE:PS00407, PROSITE:PS00408
KEYWORDS Cell junction; Cell membrane; Gap junction; Membrane; Proteomics
identification; Reference proteome; Transmembrane; Transmembrane
helix.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 273)
AUTHORS Richard,G., Smith,L.E., Bailey,R.A., Itin,P., Hohl,D., Epstein,E.H.
Jr., DiGiovanna,J.J., Compton,J.G. and Bale,S.J.
TITLE Mutations in the human connexin gene GJB3 cause erythrokeratodermia
variabilis
JOURNAL Nat Genet 20 (4), 366-369 (1998)
PUBMED 9843209
REMARK NUCLEOTIDE SEQUENCE [GENOMIC DNA].
REFERENCE 2 (residues 1 to 273)
AUTHORS Xia,J.-H., Liu,C.-Y., Zheng,D., Pan,Q. and Xie,W.
TITLE Direct Submission
JOURNAL Submitted (??-MAR-1999) to the EMBL/GenBank/DDBJ databases
REMARK NUCLEOTIDE SEQUENCE [MRNA].
REFERENCE 3 (residues 1 to 273)
AUTHORS Gregory,S.G., Barlow,K.F., McLay,K.E., Kaul,R., Swarbreck,D.,
Dunham,A., Scott,C.E., Howe,K.L., Woodfine,K., Spencer,C.C.,
Jones,M.C., Gillson,C., Searle,S., Zhou,Y., Kokocinski,F.,
McDonald,L., Evans,R., Phillips,K., Atkinson,A., Cooper,R.,
Jones,C., Hall,R.E., Andrews,T.D., Lloyd,C., Ainscough,R.,
Almeida,J.P., Ambrose,K.D., Anderson,F., Andrew,R.W., Ashwell,R.I.,
Aubin,K., Babbage,A.K., Bagguley,C.L., Bailey,J., Beasley,H.,
Bethel,G., Bird,C.P., Bray-Allen,S., Brown,J.Y., Brown,A.J.,
Buckley,D., Burton,J., Bye,J., Carder,C., Chapman,J.C., Clark,S.Y.,
Clarke,G., Clee,C., Cobley,V., Collier,R.E., Corby,N.,
Coville,G.J., Davies,J., Deadman,R., Dunn,M., Earthrowl,M.,
Ellington,A.G., Errington,H., Frankish,A., Frankland,J., French,L.,
Garner,P., Garnett,J., Gay,L., Ghori,M.R., Gibson,R., Gilby,L.M.,
Gillett,W., Glithero,R.J., Grafham,D.V., Griffiths,C.,
Griffiths-Jones,S., Grocock,R., Hammond,S., Harrison,E.S., Hart,E.,
Haugen,E., Heath,P.D., Holmes,S., Holt,K., Howden,P.J., Hunt,A.R.,
Hunt,S.E., Hunter,G., Isherwood,J., James,R., Johnson,C.,
Johnson,D., Joy,A., Kay,M., Kershaw,J.K., Kibukawa,M.,
Kimberley,A.M., King,A., Knights,A.J., Lad,H., Laird,G., Lawlor,S.,
Leongamornlert,D.A., Lloyd,D.M., Loveland,J., Lovell,J., Lush,M.J.,
Lyne,R., Martin,S., Mashreghi-Mohammadi,M., Matthews,L.,
Matthews,N.S., McLaren,S., Milne,S., Mistry,S., Moore,M.J.,
Nickerson,T., O'Dell,C.N., Oliver,K., Palmeiri,A., Palmer,S.A.,
Parker,A., Patel,D., Pearce,A.V., Peck,A.I., Pelan,S., Phelps,K.,
Phillimore,B.J., Plumb,R., Rajan,J., Raymond,C., Rouse,G.,
Saenphimmachak,C., Sehra,H.K., Sheridan,E., Shownkeen,R., Sims,S.,
Skuce,C.D., Smith,M., Steward,C., Subramanian,S., Sycamore,N.,
Tracey,A., Tromans,A., Van Helmond,Z., Wall,M., Wallis,J.M.,
White,S., Whitehead,S.L., Wilkinson,J.E., Willey,D.L., Williams,H.,
Wilming,L., Wray,P.W., Wu,Z., Coulson,A., Vaudin,M., Sulston,J.E.,
Durbin,R., Hubbard,T., Wooster,R., Dunham,I., Carter,N.P.,
McVean,G., Ross,M.T., Harrow,J., Olson,M.V., Beck,S., Rogers,J.,
Bentley,D.R., Banerjee,R., Bryant,S.P., Burford,D.C., Burrill,W.D.,
Clegg,S.M., Dhami,P., Dovey,O., Faulkner,L.M., Gribble,S.M.,
Langford,C.F., Pandian,R.D., Porter,K.M. and Prigmore,E.
TITLE The DNA sequence and biological annotation of human chromosome 1
JOURNAL Nature 441 (7091), 315-321 (2006)
PUBMED 16710414
REMARK NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Erratum:[Nature. 2006 Oct 26;443(7114):1013. Banerjee, R [added];
Bryant, SP [added]; Burford, DC [added]; Burrill, WDH [added];
Clegg, SM [added]; Dhami, P [added]; Dovey, O [added]; Faulkner, LM
[added]; Gribble, SM [added]; Langford, CF [added]; Pandian, RD
[added]; Porter, KM [added]; Prigmore, E]
REFERENCE 4 (residues 1 to 273)
AUTHORS Gerhard,D.S., Wagner,L., Feingold,E.A., Shenmen,C.M., Grouse,L.H.,
Schuler,G., Klein,S.L., Old,S., Rasooly,R., Good,P., Guyer,M.,
Peck,A.M., Derge,J.G., Lipman,D., Collins,F.S., Jang,W., Sherry,S.,
Feolo,M., Misquitta,L., Lee,E., Rotmistrovsky,K., Greenhut,S.F.,
Schaefer,C.F., Buetow,K., Bonner,T.I., Haussler,D., Kent,J.,
Kiekhaus,M., Furey,T., Brent,M., Prange,C., Schreiber,K.,
Shapiro,N., Bhat,N.K., Hopkins,R.F., Hsie,F., Driscoll,T.,
Soares,M.B., Casavant,T.L., Scheetz,T.E., Brown-stein,M.J.,
Usdin,T.B., Toshiyuki,S., Carninci,P., Piao,Y., Dudekula,D.B.,
Ko,M.S., Kawakami,K., Suzuki,Y., Sugano,S., Gruber,C.E.,
Smith,M.R., Simmons,B., Moore,T., Waterman,R., Johnson,S.L.,
Ruan,Y., Wei,C.L., Mathavan,S., Gunaratne,P.H., Wu,J., Garcia,A.M.,
Hulyk,S.W., Fuh,E., Yuan,Y., Sneed,A., Kowis,C., Hodgson,A.,
Muzny,D.M., McPherson,J., Gibbs,R.A., Fahey,J., Helton,E.,
Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M.,
Madari,A., Young,A.C., Wetherby,K.D., Granite,S.J., Kwong,P.N.,
Brinkley,C.P., Pearson,R.L., Bouffard,G.G., Blakesly,R.W.,
Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J.,
Myers,R.M., Butterfield,Y.S., Griffith,M., Griffith,O.L.,
Krzywinski,M.I., Liao,N., Morin,R., Palmquist,D., Petrescu,A.S.,
Skalska,U., Smailus,D.E., Stott,J.M., Schnerch,A., Schein,J.E.,
Jones,S.J., Holt,R.A., Baross,A., Marra,M.A., Clifton,S.,
Makowski,K.A., Bosak,S. and Malek,J.
CONSRTM MGC Project Team
TITLE The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC)
JOURNAL Genome Res 14 (10B), 2121-2127 (2004)
PUBMED 15489334
REMARK NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].;
TISSUE=Pancreas
Erratum:[Genome Res. 2006 Jun;16(6):804. Morrin, Ryan [corrected to
Morin, Ryan]]
COMMENT On Jul 6, 2000 this sequence version replaced gi:6014759.
[FUNCTION] One gap junction consists of a cluster of closely packed
pairs of transmembrane channels, the connexons, through which
materials of low MW diffuse from one cell to a neighboring cell.
[SUBUNIT] A connexon is composed of a hexamer of connexins.
[INTERACTION] O95377; Q9BQE5: APOL2; NbExp=3; IntAct=EBI-3909454,
EBI-4290634; O95377; O95236-2: APOL3; NbExp=3; IntAct=EBI-3909454,
EBI-11976321; O95377; P29972: AQP1; NbExp=3; IntAct=EBI-3909454,
EBI-745213; O95377; Q8WVX3-2: C4orf3; NbExp=3; IntAct=EBI-3909454,
EBI-12003442; O95377; P21964: COMT; NbExp=3; IntAct=EBI-3909454,
EBI-372265; O95377; Q4LDR2: CTXN3; NbExp=3; IntAct=EBI-3909454,
EBI-12019274; O95377; O43169: CYB5B; NbExp=3; IntAct=EBI-3909454,
EBI-1058710; O95377; Q9UKR5: ERG28; NbExp=3; IntAct=EBI-3909454,
EBI-711490; O95377; Q92520: FAM3C; NbExp=3; IntAct=EBI-3909454,
EBI-2876774; O95377; P24593: IGFBP5; NbExp=3; IntAct=EBI-3909454,
EBI-720480; O95377; Q8N5M9: JAGN1; NbExp=3; IntAct=EBI-3909454,
EBI-10266796; O95377; Q9UBY5: LPAR3; NbExp=3; IntAct=EBI-3909454,
EBI-12033434; O95377; Q7Z4F1: LRP10; NbExp=3; IntAct=EBI-3909454,
EBI-2830349; O95377; P30301: MIP; NbExp=3; IntAct=EBI-3909454,
EBI-8449636; O95377; Q5J8X5: MS4A13; NbExp=3; IntAct=EBI-3909454,
EBI-12070086; O95377; Q9H115: NAPB; NbExp=3; IntAct=EBI-3909454,
EBI-3921185; O95377; Q9UHJ9-5: PGAP2; NbExp=3; IntAct=EBI-3909454,
EBI-12092917; O95377; Q5VZY2: PLPP4; NbExp=3; IntAct=EBI-3909454,
EBI-10485931; O95377; Q8IY26: PLPP6; NbExp=3; IntAct=EBI-3909454,
EBI-11721828; O95377; P54315: PNLIPRP1; NbExp=3;
IntAct=EBI-3909454, EBI-8652812; O95377; Q9NS64: RPRM; NbExp=3;
IntAct=EBI-3909454, EBI-1052363; O95377; Q5QGT7: RTP2; NbExp=3;
IntAct=EBI-3909454, EBI-10244780; O95377; Q96IW7: SEC22A; NbExp=3;
IntAct=EBI-3909454, EBI-8652744; O95377; O75396: SEC22B; NbExp=3;
IntAct=EBI-3909454, EBI-1058865; O95377; Q9Y6X1: SERP1; NbExp=3;
IntAct=EBI-3909454, EBI-10329948; O95377; Q9BRI3: SLC30A2; NbExp=3;
IntAct=EBI-3909454, EBI-8644112; O95377; Q9NVC3: SLC38A7; NbExp=3;
IntAct=EBI-3909454, EBI-10314552; O95377; Q8IVJ1: SLC41A1; NbExp=3;
IntAct=EBI-3909454, EBI-12266234; O95377; Q96JW4: SLC41A2; NbExp=3;
IntAct=EBI-3909454, EBI-10290130; O95377; B2RUZ4: SMIM1; NbExp=3;
IntAct=EBI-3909454, EBI-12188413; O95377; P48230: TM4SF4; NbExp=3;
IntAct=EBI-3909454, EBI-8650934; O95377; Q5BJH2-2: TMEM128;
NbExp=3; IntAct=EBI-3909454, EBI-10694905; O95377; Q9H2L4: TMEM60;
NbExp=3; IntAct=EBI-3909454, EBI-2852148; O95377; Q8N2M4: TMEM86A;
NbExp=3; IntAct=EBI-3909454, EBI-12015604; O95377; Q5BJF2: TMEM97;
NbExp=3; IntAct=EBI-3909454, EBI-12111910; O95377; Q5TGU0: TSPO2;
NbExp=3; IntAct=EBI-3909454, EBI-12195249; O95377; Q6UX27-3: VSTM1;
NbExp=3; IntAct=EBI-3909454, EBI-12190699.
[SUBCELLULAR LOCATION] Cell membrane; Multi-pass membrane protein.
Cell junction, gap junction.
[SIMILARITY] Belongs to the connexin family. Beta-type (group I)
subfamily. {ECO:0000305}.
FEATURES Location/Qualifiers
source 1..273
/organism="Homo sapiens"
/db_xref="taxon:9606"
gene 1..273
/gene="GJB5"
Protein 1..273
/product="Gap junction beta-5 protein"
/note="Connexin-31.1; Cx31.1"
/UniProtKB_evidence="Evidence at protein level"
Region 1..273
/region_name="Mature chain"
/note="Gap junction beta-5 protein. /id=PRO_0000057868."
Region 1..20
/region_name="Topological domain"
/note="Cytoplasmic. /evidence=ECO:0000255."
Region 2..209
/region_name="Connexin"
/note="pfam00029"
/db_xref="CDD:459638"
Region 21..40
/region_name="Transmembrane region"
/note="Helical. /evidence=ECO:0000255."
Region 41..75
/region_name="Topological domain"
/note="Extracellular. /evidence=ECO:0000255."
Region 76..98
/region_name="Transmembrane region"
/note="Helical. /evidence=ECO:0000255."
Region 99..126
/region_name="Topological domain"
/note="Cytoplasmic. /evidence=ECO:0000255."
Region 127..149
/region_name="Transmembrane region"
/note="Helical. /evidence=ECO:0000255."
Region 150..187
/region_name="Topological domain"
/note="Extracellular. /evidence=ECO:0000255."
Region 188..210
/region_name="Transmembrane region"
/note="Helical. /evidence=ECO:0000255."
Region 211..273
/region_name="Topological domain"
/note="Cytoplasmic. /evidence=ECO:0000255."
ORIGIN
1 mnwsifegll sgvnkystaf griwlslvfi frvlvylvta ervwsddhkd fdcntrqpgc
61 snvcfdeffp vshvrlwalq lilvtcpsll vvmhvayrev qekrhreahg ensgrlylnp
121 gkkrgglwwt yvcslvfkas vdiaflyvfh sfypkyilpp vvkchadpcp nivdcfiskp
181 sekniftlfm vataaicill nlveliylvs krcheclaar kaqamctghh phgttssckq
241 ddllsgdlif lgsdshppll pdrprdhvkk til
//